MCID: CHR359
MIFTS: 25

Chronic Infections, Due to Mbl Deficiency malady

Genetic diseases (common) category

Summaries for Chronic Infections, Due to Mbl Deficiency

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Genetics Home Reference:23 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.

MalaCards based summary: Chronic Infections, Due to Mbl Deficiency, also known as mannose-binding protein deficiency, is related to cystic fibrosis and cryptosporidiosis. An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (mannose-binding lectin (protein C) 2, soluble). Affiliated tissues include liver.

OMIM:47 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of... (614372) more...

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Chronic Infections, Due to Mbl Deficiency, Aliases & Descriptions:

Name: Chronic Infections, Due to Mbl Deficiency 47 11
Mannose-Binding Protein Deficiency 47 22 23 24
Mannose-Binding Lectin Protein Deficiency 23
Mannose-Binding Lectin Deficiency 23
 
Mbl2 Deficiency 23
Mbl Deficiency 23
Mbp Deficiency 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 614372

Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Graphical network of the top 20 diseases related to Chronic Infections, Due to Mbl Deficiency:



Diseases related to chronic infections, due to mbl deficiency

Symptoms for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Drug clinical trials:

Search ClinicalTrials for Chronic Infections, Due to Mbl Deficiency

Search NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Genetic tests related to Chronic Infections, Due to Mbl Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency22 24 MBL2

Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

33
Liver

Animal Models for Chronic Infections, Due to Mbl Deficiency or affiliated genes

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Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenic, risk factorrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenic, risk factorrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenic, risk factorrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Compounds for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Products for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chronic Infections, Due to Mbl Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet